Variant report

Variant	esv1842176
Chromosome Location	chr3:98411049-98414646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11914312	chr3:98411049-98411050	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576390569	chr3:98411153-98411154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78606400	chr3:98411179-98411180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75825960	chr3:98411237-98411238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6794220	chr3:98411302-98411303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375707008	chr3:98411324-98411325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569747962	chr3:98411379-98411380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114960554	chr3:98411429-98411430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192263278	chr3:98411440-98411441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111616162	chr3:98411448-98411449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113366012	chr3:98411452-98411453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543194583	chr3:98411503-98411504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563279418	chr3:98411504-98411505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184320503	chr3:98411508-98411509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144269467	chr3:98411512-98411513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189457895	chr3:98411633-98411634	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs151283583	chr3:98411634-98411635	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs9881206	chr3:98411651-98411652	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538611494	chr3:98411658-98411659	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181916327	chr3:98411675-98411676	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs533447880	chr3:98411728-98411729	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs550032252	chr3:98411781-98411782	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs570005467	chr3:98411810-98411811	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs151145594	chr3:98411857-98411858	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs187068940	chr3:98411885-98411886	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs565639203	chr3:98411888-98411889	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs73857194	chr3:98411908-98411909	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149877637	chr3:98411918-98411919	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs577797146	chr3:98411977-98411978	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs543483532	chr3:98412035-98412036	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs558649400	chr3:98412060-98412061	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs373568430	chr3:98412129-98412130	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs535230819	chr3:98412145-98412146	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs189463951	chr3:98412149-98412150	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs542655565	chr3:98412154-98412155	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs553352809	chr3:98412212-98412213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562323407	chr3:98412213-98412214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527979783	chr3:98412263-98412264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112254450	chr3:98412308-98412309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180708671	chr3:98412334-98412335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73857195	chr3:98412500-98412501	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs149003418	chr3:98412510-98412511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186718399	chr3:98412536-98412537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376312993	chr3:98412561-98412562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145829190	chr3:98412585-98412586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146599130	chr3:98412602-98412603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548960816	chr3:98412653-98412654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141307715	chr3:98412692-98412693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534591561	chr3:98412710-98412711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557659171	chr3:98412746-98412747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98409600-98411600	Enhancers	HepG2	liver
2	chr3:98409600-98416000	Enhancers	HUVEC	blood vessel
3	chr3:98409800-98412200	Enhancers	Fetal Heart	heart
4	chr3:98410000-98411200	Weak transcription	Placenta	Placenta
5	chr3:98410000-98411400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:98410000-98412400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:98410200-98414400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:98410200-98414400	Weak transcription	Osteobl	bone
9	chr3:98410200-98417600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:98411000-98412400	Enhancers	Stomach Mucosa	stomach
11	chr3:98411200-98412400	Enhancers	Placenta	Placenta
12	chr3:98411200-98412800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr3:98411400-98412200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:98411400-98412200	Enhancers	Liver	Liver
15	chr3:98411600-98411800	Flanking Active TSS	HepG2	liver
16	chr3:98411800-98412200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr3:98411800-98412200	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr3:98411800-98412600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:98412000-98412200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr3:98412200-98414200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:98412200-98420200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:98412400-98414200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:98414200-98415400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:98414200-98418600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr3:98414400-98414800	Enhancers	Osteobl	bone
26	chr3:98414400-98415400	Enhancers	NHEK	skin
27	chr3:98414400-98416600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:98414600-98415400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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